ClinVar Miner

Variants in gene ATRX

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
44 21 161 75 39 23 313

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATR-X syndrome 20 2 51 28 33 1 133
not provided 13 11 78 0 5 0 105
not specified 0 0 20 29 16 21 70
History of neurodevelopmental disorder 0 1 10 19 13 0 43
Inborn genetic diseases 3 2 10 0 0 0 15
Mental retardation-hypotonic facies syndrome, X-linked 8 0 0 0 0 0 8
Acquired hemoglobin H disease; ATR-X syndrome; Mental retardation-hypotonic facies syndrome X-linked, 1 1 0 5 0 0 0 6
Mental retardation-hypotonic facies syndrome X-linked, 1 1 1 4 0 0 0 6
ATR-X syndrome; Mental retardation-hypotonic facies syndrome X-linked, 1 1 1 0 0 0 0 2
Acquired hemoglobin H disease 2 0 0 0 0 0 2
Global developmental delay; Microcephaly 0 2 0 0 0 0 2
ATRX-Related Disorder 0 0 0 0 0 1 1
Alpha-thalassemia/mental retardation syndrome 1 0 0 0 0 0 1
Astrocytoma, anaplastic 1 0 0 0 0 0 1
Atypical teratoid/rhabdoid tumor 1 0 0 0 0 0 1
Cryptorchidism; Osteosarcoma; Ambiguous genitalia; Microcephaly; Intellectual disability, severe 1 0 0 0 0 0 1
Glioblastoma multiforme, somatic 0 0 1 0 0 0 1
Global developmental delay 1 0 0 0 0 0 1
Intellectual disability 1 0 0 0 0 0 1
Metastatic pancreatic neuroendocrine tumours 0 1 0 0 0 0 1
Oligodendroglioma 0 0 1 0 0 0 1
See cases 1 0 0 0 0 0 1
Short stature; Absent speech; Microcephaly; Low-set, posteriorly rotated ears; Generalized hypotonia; Drooling; Psychomotor deterioration 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 48 27 33 0 108
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 1 34 4 14 0 61
GeneDx 8 8 32 10 0 0 58
Ambry Genetics 3 2 19 19 13 0 56
Genetic Services Laboratory, University of Chicago 1 0 18 18 5 0 42
OMIM 24 0 0 0 0 0 24
ITMI 0 0 0 0 0 21 21
Athena Diagnostics Inc 0 0 4 1 5 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 0 0 0 7
Fulgent Genetics 1 0 4 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 0 2 0 5
Baylor Genetics 2 1 0 0 0 0 3
Center for Human Genetics, Inc 2 0 1 0 0 0 3
Genome Sciences Centre,British Columbia Cancer Agency 0 1 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 1 0 2
PreventionGenetics 0 0 0 0 2 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 1 1 0 0 0 2
GeneReviews 1 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 1 0 0 0 0 1
Diagnostic Laboratory,Strasbourg University Hospital 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 0 1 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1
Tampere Brain Tumor Research Consortium,University of Tampere 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics,University Hospital Bonn 1 0 0 0 0 0 1

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